Canonical Allele Identifier: CA1153916440
Gene: MFN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11999024_11999025delinsTC , CM000663.2:g.11999024_11999025delinsTC GRCh38
NC_000001.10:g.12059081_12059082delinsTC , CM000663.1:g.12059081_12059082delinsTC GRCh37
NC_000001.9:g.11981668_11981669delinsTC NCBI36
NG_007945.1:g.23844_23845delinsTC , LRG_255:g.23844_23845delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000235329.10:c.745_746delinsTC MANE Select ENSP00000235329.5:p.Ser249=
ENST00000674548.1:c.745_746delinsTC ENSP00000502185.1:p.Ser249=
ENST00000674658.1:c.400_401delinsTC ENSP00000502334.1:p.Ser134=
ENST00000674706.1:n.1184_1185delinsTC
ENST00000674817.1:c.745_746delinsTC ENSP00000502151.1:p.Ser249=
ENST00000674910.1:c.745_746delinsTC ENSP00000501716.1:p.Ser249=
ENST00000675053.1:c.745_746delinsTC ENSP00000501646.1:p.Ser249=
ENST00000675113.1:c.745_746delinsTC ENSP00000502623.1:p.Ser249=
ENST00000675194.1:n.1170_1171delinsTC
ENST00000675231.1:c.745_746delinsTC ENSP00000502404.1:p.Ser249=
ENST00000675298.1:c.745_746delinsTC ENSP00000501839.1:p.Ser249=
ENST00000675374.1:n.544_545delinsTC
ENST00000675483.1:n.873_874delinsTC
ENST00000675512.1:c.*747_*748delinsTC ENSP00000502630.1:n.*747_*748delinsTC
ENST00000675528.1:n.236_237delinsTC
ENST00000675817.1:c.745_746delinsTC ENSP00000502422.1:p.Ser249=
ENST00000675872.1:n.1105_1106delinsTC
ENST00000675919.1:c.745_746delinsTC ENSP00000501776.1:p.Ser249=
ENST00000675959.1:n.1251_1252delinsTC
ENST00000675987.1:c.745_746delinsTC ENSP00000502145.1:p.Ser249=
ENST00000676293.1:c.745_746delinsTC ENSP00000502362.1:p.Ser249=
ENST00000676426.1:c.599+1603_599+1604delinsTC ENSP00000502359.1:n.599+1603_599+1604delinsTC
ENST00000235329.9:c.745_746delinsTC ENSP00000235329.5:p.Ser249=
ENST00000444836.5:c.745_746delinsTC ENSP00000416338.1:p.Ser249=
NM_001127660.1:c.745_746delinsTC NP_001121132.1:p.Ser249=
NM_014874.3:c.745_746delinsTC , LRG_255t1:c.745_746delinsTC NP_055689.1:p.Ser249=
XM_005263543.2:c.745_746delinsTC XP_005263600.1:p.Ser249=
XM_005263545.2:c.745_746delinsTC XP_005263602.1:p.Ser249=
XM_005263547.2:c.745_746delinsTC XP_005263604.1:p.Ser249=
XM_005263548.2:c.745_746delinsTC XP_005263605.1:p.Ser249=
XM_005263543.3:c.745_746delinsTC XP_005263600.1:p.Ser249=
XM_005263545.3:c.745_746delinsTC XP_005263602.1:p.Ser249=
XM_005263547.3:c.745_746delinsTC XP_005263604.1:p.Ser249=
XM_005263548.3:c.745_746delinsTC XP_005263605.1:p.Ser249=
XM_024451299.1:c.745_746delinsTC XP_024307067.1:p.Ser249=
NM_014874.4:c.745_746delinsTC MANE Select NP_055689.1:p.Ser249=
NM_001127660.2:c.745_746delinsTC NP_001121132.1:p.Ser249=